SNORA17B

Chr 9

small nucleolar RNA, H/ACA box 17B

Also known as: ACA43, SNORA43

This gene encodes a small nucleolar RNA (snoRNA) predicted to be involved in RNA processing within the nucleolus. Currently, no human diseases have been definitively associated with mutations in SNORA17B. The inheritance pattern and clinical significance remain to be established.

ResearchSummary from RefSeq
Clinical SummarySNORA17B
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ClinVar Variants
47 unique Pathogenic / Likely Pathogenic of 47 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

47 submitted variants in ClinVar

Classification Summary

Pathogenic46
Likely Pathogenic1
46
Pathogenic
1
Likely Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
46
Likely Pathogenic
1
VUS
0
Likely Benign
0
Benign
0
Total47

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

SNORA17B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found